Reduction in diagnostic and therapeutic interventions by non‐invasive determination of fetal sex in early pregnancy

This study reviews our clinical experience of non‐invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X‐linked genetic disease or for ambiguous development of the external genitalia.

[1]  R. B. van der Luijt,et al.  Earliest gestational age for fetal sexing in cell‐free maternal plasma , 2003, Prenatal diagnosis.

[2]  A. Benachi,et al.  Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. , 2003, Human reproduction.

[3]  J. Bartha,et al.  Fetal Sex Determination From Maternal Blood at 6 Weeks of Gestation When at Risk for 21‐Hydroxylase Deficiency , 2003, Obstetrics and gynecology.

[4]  C. Falcinelli,et al.  Non‐invasive first trimester fetal gender assignment in pregnancies at risk for X‐linked recessive diseases , 2002, Prenatal diagnosis.

[5]  N. Avent,et al.  Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service , 2002, Transfusion.

[6]  N. Frydman,et al.  Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre. , 2002, Human reproduction.

[7]  O. Cinek,et al.  Quantitative analysis of DNA levels in maternal plasma in normal and Down syndrome pregnancies , 2002, BMC pregnancy and childbirth.

[8]  A. Benachi,et al.  New strategy for prenatal diagnosis of X-linked disorders. , 2002, The New England journal of medicine.

[9]  P. Carinci,et al.  Testing normality of fetal DNA concentration in maternal plasma at 10–12 completed weeks' gestation: a preliminary approach to a new marker for genetic screening , 2002, Prenatal diagnosis.

[10]  A. Benachi,et al.  First‐trimester fetal sex determination in maternal serum using real‐time PCR , 2001, Gynecologie, obstetrique & fertilite.

[11]  T. Okai,et al.  Accuracy of fetal gender determination by analysis of DNA in maternal plasma. , 2001, Clinical chemistry.

[12]  R. Rijnders,et al.  Fetal Sex Determination From Maternal Plasma in Pregnancies at Risk for Congenital Adrenal Hyperplasia , 2001, Obstetrics and gynecology.

[13]  A. Mustafa,et al.  Detection of Y chromosome‐specific DNA in the plasma and urine of pregnant women using nested polymerase chain reaction , 2001, Prenatal diagnosis.

[14]  W. Holzgreve,et al.  Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma. , 2001, Swiss medical weekly.

[15]  H. Kronenberg,et al.  Genotyping fetal DNA by non‐invasive means: extraction from maternal plasma , 2001, Vox sanguinis.

[16]  Y. Lo.  Fetal DNA in maternal plasma: biology and diagnostic applications. , 2000, Clinical chemistry.

[17]  W. Holzgreve,et al.  Detection of fetal Rhesus D and sex using fetal DNA from maternal plasma by multiplex polymerase chain reaction , 2000, BJOG : an international journal of obstetrics and gynaecology.

[18]  M. Ferrari,et al.  Evaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cells. , 1999, Clinical chemistry.

[19]  D. Economides,et al.  The sonographic identification of fetal gender from 11 to 14 weeks of gestation , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[20]  K. Nicolaides,et al.  First‐trimester determination of fetal gender by ultrasound , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[21]  B. Benoit.  Early fetal gender determination , 1999 .

[22]  C. Falcinelli,et al.  Biometrical threshold of biparietal diameter for certain fetal sex assignment by ultrasound , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[23]  S. Lajic,et al.  Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. , 1998, The Journal of clinical endocrinology and metabolism.

[24]  T K Lau,et al.  Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. , 1998, American journal of human genetics.

[25]  I. Sargent,et al.  Presence of fetal DNA in maternal plasma and serum , 1997, The Lancet.

[26]  K. Nicolaides,et al.  Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation , 1994, The Lancet.

[27]  A. Larsson,et al.  Congenital Adrenal Hyperplasia in Sweden 1969‐1986 Prevalence, Symptoms and Age at Diagnosis , 1990, Acta paediatrica Scandinavica.

[28]  B. R. Elejalde,et al.  Visualization of the fetal genitalia by ultrasonography: a review of the literature and analysis of its accuracy and ethical implications. , 1985, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[29]  Marshall Ff.  Embryology of the lower genitourinary tract. , 1978 .

[30]  D. W. Smith,et al.  Fetal phallic growth and penile standards for newborn male infants. , 1975, The Journal of pediatrics.

[31]  K. Ohama,et al.  Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum , 2001, Human Genetics.

[32]  K. Ohama,et al.  Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum. , 2001, Clinical chemistry.

[33]  D. Bianchi,et al.  Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats , 2000, Human Genetics.